沙特阿拉伯的少毛症伴青少年黄斑营养不良：一例报告
Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report.
作者信息
Ahmed Azhar, Alali Azhar, Alsharif Osama, Kaki Adnan
机构信息
Department of Dermatology, King Fahad General Hospital, Medina, Saudi Arabia.
Medina Maternity and Children Hospital, Medina, Saudi Arabia.
出版信息
Skin Appendage Disord. 2021 Jan;7(1):75-79. doi: 10.1159/000511741. Epub 2020 Dec 15.
Abstract
Hypotrichosis with juvenile macular dystrophy is an autosomal recessive disorder due to a mutation in the CDH3 gene. As its name indicates, the disease classically presented with hypotrichosis and early visual impairment. We describe herein a family member with alopecia since birth associated with severe visual impairment in their early life. We suspect the diagnosis of hypotrichosis with juvenile macular dystrophy. Genetic testing confirms the clinical suspension. We emphasize the importance of genetic testing for proper genetic counseling.
摘要
毛发稀少伴青少年黄斑营养不良是一种常染色体隐性疾病，由CDH3基因突变引起。顾名思义，该疾病典型表现为毛发稀少和早期视力损害。我们在此描述一名自出生起就患有脱发并在早年伴有严重视力损害的家庭成员。我们怀疑其患有毛发稀少伴青少年黄斑营养不良。基因检测证实了临床诊断。我们强调基因检测对于正确的遗传咨询的重要性。
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